Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas

Tucker, Tracy; Friedman, Jan M.; Friedrich, Reinhard E; Wenzel, Ralph; Fünsterer, C.; Mautner, Victor‐F.

doi:10.1136/jmg.2008.061051

Cited by 105 publications

(66 citation statements)

References 22 publications

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“…Plexiform neurofibromas are indeed diagnostic of NF-1 and represent a major cause of morbidity and mortality. They are found in 30-50% of NF-1 patients, appear in childhood and carry a risk of malignancy estimated around 5-10% [2,3]. Herein, we reported an interesting case of a particularly aggressive neurofibroma that resulted in lower extremity gigantism; this form of plexiform neurofibromas, called elephantiasis neuromatosa (EN) is rarely described.…”

Section: Discussionmentioning

confidence: 94%

Elephantiasis neuromatosa in Type 1 Neurofibromatosis

Haber¹

2016

Clin Med Img Lib

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Type 1 neurofibromatosis (NF-1), or Von Recklinghausen disease, is an autosomal dominant genetic disorder. It is characterized by the presence of multiple neurofibromas. Herein, we reported an interesting case of a particularly aggressive neurofibroma that resulted in lower extremity gigantism; this form of plexiform neurofibromas, called elephantiasis neuromatosa (EN) is rarely described. It usually affects the lower limbs and can be complicated by intractable pain and multiple ulcers. KeywordsNeurofibromatosis, Neurofibromas, Elephantiasis neuromatosa, Genodermatoses, Genetic skin diseases

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Section: Discussionmentioning

confidence: 94%

Elephantiasis neuromatosa in Type 1 Neurofibromatosis

Haber¹

2016

Clin Med Img Lib

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“…The paraspinal, sacral plexus, sciatic notch and perirectal regions are the most commonly affected sites. While most plexiform neurofibromas are asymptomatic, rapid growth of benign lesions, especially in early childhood, can cause disfigurement and may compromise function and, rarely, be life-threatening (9).…”

Section: Case Reportmentioning

confidence: 99%

Lisch and the Importance of His Nodules

Maharaj¹,

Vr²,

Sa³

2014

West Indian Med J

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“…Even though quantitative MRI parameters may possibly contribute to diagnosing nerve sheath tumors, the existing data is relatively limited, preventing the exact clinical value of these methods with regard to NF1-associated tumors from being definitively evaluated at this time. Although the diagnostic differentiation of peripheral nerve sheath tumors in MRI can be complex in a single examination, serial MRI facilitates the detection of changes in the appearance of plexiform neurofibromas, which are then highly suggestive of malignant transformation [29]. Owing to its high soft tissue contrast, MRI provides superior detection of the extent of malignant and plexiform nerve sheath tumors as well as evaluation of the neighboring structures ( • " Fig.…”

Section: Role Of Various Imaging Modalities For Neurofibromatosis Typmentioning

confidence: 99%

“…At the same time, whole-body MRI allows the possible presence of plexiform neurofibromas to be evaluated ( • " Fig. 2), thereby facilitating stratification of NF1 with identification of groups at risk of developing MPNST [29,30]. In addition, MRI can contribute to diagnosing the type of peripheral nerve sheath tumors, where a series of image features are associated with MPNST ( • " Tab.…”

Section: Role Of Various Imaging Modalities For Neurofibromatosis Typmentioning

confidence: 99%

Multimodal Imaging in Neurofibromatosis Type 1-associated Nerve Sheath Tumors

Salamon

Mautner

Adam

et al. 2015

Fortschr Röntgenstr

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Neurofibromatosis type 1 (NF1) is a neurogenetic disorder. Individuals with NF1 may develop a variety of benign and malignant tumors of which peripheral nerve sheath tumors represent the most frequent entity. Plexiform neurofibromas may demonstrate a locally destructive growth pattern, may cause severe symptoms and may undergo malignant transformation into malignant peripheral nerve sheath tumors (MPNSTs). Whole-body magnetic resonance imaging (MRI) represents the reference standard for detection of soft tissue tumors in NF1. It allows for identification of individuals with plexiform neurofibromas, for assessment of local tumor extent, and for evaluation of whole-body tumor burden on T2-weighted imaging. Multiparametric MRI may provide a comprehensive characterization of different tissue properties of peripheral nerve sheath tumors, and may identify parameters associated with malignant transformation. Due to the absence of any radiation exposure, whole-body MRI may be used for serial?follow-up of individuals with plexiform neurofibromas. 18F-fluorodeoxyglucose positron-emission-tomography (FDG PET/CT) allows a highly sensitive and specific detection of MPNST, and should be used in case of potential malignant transformation of a peripheral nerve sheath tumor. PET/CT provides a sensitive whole-body tumor staging. The use of contrast-enhanced CT for diagnosis of peripheral nerve sheath tumors is limited to special indications. To obtain the most precise readings, optimized examination protocols and dedicated radiologists and nuclear medicine physicians familiar with the complex and variable morphologies of peripheral nerve sheath tumors are required. Key points: ??Individuals with NF1 may develop benign and malignant nerve sheath tumors. ??Whole-body MRI is the reference standard to identify nerve sheath tumors in NF1. ??MRI provides a comprehensive characterization of the growth pattern, growth dynamics and extent of nerve sheath tumors. ??18F-FDG PET/CT provides a sensitivity of 100?% and a specificity of 77???95?% for detection of malignant transformation. Citation Format: ??Salamon J, Mautner VF, Adam G et?al. Multimodal Imaging in Neurofibromatosis Type 1-associated Nerve Sheath Tumors. Fortschr R?ntgenstr 2015; 187: 1084???1092

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Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas

Abstract: Longitudinal MRI is a valuable means of monitoring the growth of plexiform neurofibromas in individuals with NF1.

Cited by 105 publications

References 22 publications

Elephantiasis neuromatosa in Type 1 Neurofibromatosis

Elephantiasis neuromatosa in Type 1 Neurofibromatosis

Lisch and the Importance of His Nodules

Multimodal Imaging in Neurofibromatosis Type 1-associated Nerve Sheath Tumors

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